TalkHemochromatosis Gene Doubles Risk of Stroke
Big news this week on new risks associated with a gene related to iron overload disease (aka hemochromatosis). A large Danish study published in the journal Neurology reports that people with certain mutations that cause hereditary hemochromatosis also have a two- to three-times risk for stroke (that’s double or triple the risk of the average joe).
Reuters summary:
Of all the various combinations of these mutations, only patients with two copies of H63D had a significantly increased risk of cerebrovascular disease and ischemic stroke, a stroke caused by a blockage in an artery in the brain, which cuts off the blood supply.
“This type of gene has previously been associated with brain diseases such as Alzheimer’s disease, Parkinson disease, ALS, multiple sclerosis, and cerebrovascular disease, but this is the first time we’ve been able to determine this gene predicts such a significant increased risk of stroke,” senior author Borge G. Nordestgaard, from Herlev University Hospital in Denmark, said in a statement. …
[T]wo copies of the H63D gene increased the risk of ischemic cerebrovascular disease by 2.1-fold and the risk of ischemic stroke by 2.8-fold. By contrast, individuals with hemochromatosis with other gene patterns did not have an increase in either of these risks.
The big question now is, how does this gene (which affects the regulation of iron at a cellular level) influence risk for stroke?
Hemochromatosis is an iron overload disease that affects around 1.5 million Americans, and probably accounts for 15 percent of the cases of adult onset diabetes. It can be caused by genes, or by non-genetic factors, or by a combination of factors. If hemochromatosis is diagnosed early, treatment can very effective and the long-term effects of iron overload can be prevented.
- More about Hemochromatosis
- Genetic testing for hemochromatosis (C282Y, H63D, S65C)
Technorati Tags: hemochromatosis, iron overload, disease, stroke, risks
May 30th, 2007 at 2:28 am
Hemochromatosis and Phlebotomy – Updated Blog
Hi
Thanks for all your help so far with our Hemochromatosis blog. The discussion has changed in the last few days so we would like to take this opportunity to invite you again to a research blog on Hemochromatosis. We are very interested in you attitude toward Phlebotomy and have therefore added a few new questions.
To take part please click this link
http://www.thepatientconnections.com/blog.asp?uid=44
The blog is anonymous and easy to use. Instructions are given on the blog so thanks in advance for your help it is much appreciated.
Best wishes
Belinda
The Patient Connection
Belinda.shale@thepatientconnections.com
May 30th, 2007 at 10:41 am
Hi Belinda, I’m glad you’ve found this blog useful! I will be sending readers interested in treatments for hemochromatosis your way. The good news about phlebotomy is that it can be an effective way for people with hereditary hemochromatosis prevent the development of the more serious effects of hemochromatosis.
August 11th, 2007 at 8:32 am
My uncle has just had a liver transplant resulting from having HH. Untreated, this hereditary blood disorder can cause serious damage to the body. Both my Mom and brother also have been diagnosed. It can’t be stressed enough that if any of your family members have been diagnosed, you need to be tested. Early detection can help to prevent an early death.
August 13th, 2007 at 11:31 am
Hi Jeff, I’m sorry to hear your uncle had to have a transplant, but hope that he is recovering well. Indeed, hereditary hemochromatosis is very easily preventable if you know your genetic risk. Knowing your genetic risk *before* you develop any symptoms means that you can (1) screen your blood levels regularly, to catch any iron overload early, should it begin to develop, and (2) treat iron overload, to maintain healthy iron levels and prevent any damage to your body.
Through your post I’ve learned of the blog, Hereditary Hemochromatosis. Any other interested readers should check it out!